摘要： 目的 应用生物信息学方法对TARGET数据库进行分析，筛选儿童急性髓细胞白血病(AML)相关差异基因及信号通路。方法 从TARGET数据库下载AML患儿的临床信息和基因表达信息。采用R软件筛选低/中高危患儿的差异基因、初诊/复发患儿的差异基因。应用DAVID对差异基因进行富集分析。采用STRING和Cytoscape软件筛选枢纽(hub)基因。采用Cox回归分析hub基因与总生存期的关系。结果 通过分析TARGET数据库AML患儿的基因表达数据集，获得96个与危险度分层和复发相关的差异基因，其中上调基因38个，下调基因58个。蛋白质-蛋白质相互作用(PPI)网络分析鉴定出15个hub基因。上调的7个hub基因与危险度分层呈正相关(均P＜0.05)，下调的8个hub与危险度分层呈负相关(均P＜0.05)。Cox回归分析结果显示，15个hub基因影响儿童AML患儿的总生存期，其中DNMT3B、DPP4、CENPE和H3C10是影响儿童AML患儿总生存期的独立危险因素。结论 PPI网络分析鉴定出的15个hub基因可能是儿童AML潜在的分子标志物，为深入研究儿童AML的发病机制和治疗靶点提供方向。

基于TARGET数据库筛选儿童急性髓细胞白血病的关键基因和信号通路

邓颖¹, 熊安秀², 刘景珍³, 祁闪闪⁴, 熊昊⁵

1. 华中科技大学同济医学院附属武汉儿童医院公共卫生科, 武汉 430015;
2. 宜昌市中心人民医院儿科, 湖北 宜昌 443003;
3. 恩施州中心医院儿童血液消化心血管肾病中心, 湖北 恩施 445099;
4. 华中科技大学同济医学院附属武汉儿童医院儿童血液疾病研究室, 武汉 430015;
5. 华中科技大学同济医学院附属武汉儿童医院血液肿瘤科, 武汉 430015

收稿日期:2022-11-17出版日期:2023-10-30发布日期:2023-10-18
通讯作者:熊昊E-mail:22587481@qq.com
作者简介:邓颖(1975-),女,主管护师,本科.
基金资助:湖北省自然科学基金（2020CFB364)；武汉市应用基础前沿项目（2020020601012319)


关键词: 儿童急性髓细胞白血病, TARGET数据库, 生物信息学, 分子标志物
Abstract: Objective The TARGET database was utilized for bioinformatics analysis to screen key genes and pathways involved in childhood acute myeloid leukemia (AML). Methods Clinical and gene expression data of children with AML were obtained from the TARGET database. R software was used to analyze the different expression genes (DEGs) between low and standard-high risk，as well as the newly diagnosed and recurrent children. Enrichment analysis of DEGs was performed using the DAVID online database. Hub genes were identified using STRING and Cytoscape software. The relationship between hub genes and overall survival (OS) was analyzed using the Cox regression analysis. Results A total of 96 DEGs were identified，including 38 up-regulated and 58 down-regulated genes PPI network analysis identified 15 hub genes，of which 7 up-regulated hub genes were positively correlated with the risk group (all P＜0.05)， whereas 8 down-regulated hub genes were negatively correlated with the risk group. The Cox regression analysis revealed these 15 hub genes affected the OS of children with AML，among which DNMT3B，DPP4，CENPE，and H3C10 were independent risk factors for OS. Conclusion The 15 hub genes have the potential to serve as molecular markers that may provide valuable insights into the pathogenesis and therapeutic targets of childhood AML.
Key words: acute myeloid leukemia in children, TARGET database, bioinformatics, molecular marker
PDF全文下载地址:

https://journal.cmu.edu.cn/CN/article/downloadArticleFile.do?attachType=PDF&id=3298